scholarly journals The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease - Study Protocol

2021 ◽  
Author(s):  
Abigail Louise Higgins ◽  
Marco Toffoli ◽  
Stephen Mullin ◽  
Chiao-Yin Lee ◽  
Sofia Koletsi ◽  
...  
Keyword(s):  
Risk Factor ◽  
Parkinson Disease ◽  
Study Protocol ◽  
Genetic Risk ◽  
Gaucher Disease ◽  
Prodromal Symptoms ◽  
Mutation Carriers ◽  
Remote Assessment ◽  
Ongoing Development ◽  
Disease Study

Mutations in GBA which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson disease. The diagnosis of Parkinson disease relies upon clinically defined motor features which appear after irreversible neurodegeneration. Prodromal symptoms of Parkinson disease may provide a means to predict latent pathology, years before the onset of motor features. Previous work has reported prodromal features of Parkinson disease in GBA mutation carriers, however this has been insufficiently sensitive to identify those that will develop Parkinson disease. The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease (RAPSODI) study assesses a large cohort of GBA mutation carriers, to aid development of procedures for earlier diagnosis of Parkinson disease.

scholarly journals The remote assessment of parkinsonism supporting ongoing development of interventions in Gaucher disease

2021 ◽  
Author(s):  
Abigail Louise Higgins ◽  
Marco Toffoli ◽  
Stephen Mullin ◽  
Chiao-Yin Lee ◽  
Sofia Koletsi ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Risk Factor ◽  
Genetic Risk ◽  
Gaucher Disease ◽  
Large Cohort ◽  
Genetic Risk Factor ◽  
Prodromal Symptoms ◽  
Mutation Carriers ◽  
Remote Assessment ◽  
Ongoing Development

Mutations in GBA which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson's disease (PD). The diagnosis of PD relies upon clinically defined motor features which appear after irreversible neurodegeneration. Prodromal symptoms of PD may provide a means to predict latent pathology, years before the onset of motor features. Previous work has reported prodromal features of PD in GBA mutation carriers, however this has been insufficiently sensitive to identify those that will develop PD. The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease (RAPSODI GD) study assesses a large cohort of GBA mutation carriers, to aid development of procedures for earlier diagnosis of PD.

scholarly journals Gaucher Disease and the Synucleinopathies

2006 ◽  
Vol 2006 ◽  
pp. 1-6 ◽  
Author(s):  
Kathleen S. Hruska ◽  
Ozlem Goker-Alpan ◽  
Ellen Sidransky
Keyword(s):  
Risk Factor ◽  
Parkinson Disease ◽  
Lewy Body ◽  
Gaucher Disease ◽  
Wide Spectrum ◽  
Lewy Bodies ◽  
Lewy Body Dementia ◽  
Expected Frequency ◽  
Mutation Carriers

Several recent observations suggest a connection between Gaucher disease, the inherited deficiency of glucocerebrosidase, and the synucleinopathies. Rare patients have been observed who develop both Gaucher disease and parkinsonism. Autopsy studies on these subjects reveal synuclein-positive Lewy bodies and inclusions. An increased incidence of synucleinopathies also has been noted in relatives of Gaucher probands. In complementary studies, screening of patients with parkinsonism has identified a greater than expected frequency of glucocerebrosidase mutations. These glucocerebrosidase mutation carriers have a wide spectrum of associated parkinsonian phenotypes, ranging from classic L-dopa-responsive Parkinson disease to a phenotype more characteristic of Lewy body dementia. Despite this association, the vast majority of Gaucher carriers and patients with Gaucher disease never develop parkinsonism. However, mutations in this gene are likely to be a contributing risk factor in subjects otherwise prone to developing synucleinopathies.

scholarly journals Transcranial sonography in carriers of Gaucher disease

2019 ◽  
Author(s):  
Fatemeh Omrani ◽  
Shahla Ansari-Damavandi ◽  
Babak Zamani ◽  
Zahra Omrani ◽  
Nahid Mohammadzade ◽  
...  
Keyword(s):  
Genetic Risk ◽  
Gaucher Disease ◽  
Demographic Data ◽  
Third Ventricle ◽  
Transcranial Sonography ◽  
Healthy Controls ◽  
Mutation Carriers ◽  
Genetic Status ◽  
Mini Mental Status Examination ◽  
Mental Status Examination

Background: Glucocerebrosidase (GBA) mutation is the most common genetic risk factor in Parkinson’s disease (PD). Transcranial sonography (TCS) shows increased substantia nigra (SN) echogenicity in both idiopathic and genetic forms of PD. The goal of this study was to compare maximal area of SN hyperechogenicity (aSNmax) and diameter of third ventricle (DTV) between GBA mutation carriers and healthy controls. Methods: Twenty-six carriers of GBA mutation and twenty-six healthy controls underwent TCS. The aSNmax and the DTV were measured. Mini-mental status examination (MMSE) and demographic data of the subjects were recorded, too. Results: Mean aSNmax in GBA mutation carriers was significantly higher (0.31 ± 0.06 cm2) than controls (0.16 ± 0.04 cm2). Moreover, DTV was significantly higher in GBA mutation carriers group (3.98 ± 0.90 vs 3.29 ± 0.56 cm). Conclusion: Increased SN echogenicity and increased third ventricle diameter in GBA mutation carriers may be caused by alterations in iron metabolism with reference to their genetic status.

scholarly journals Impact of acquired and genetic factors on thrombophilic phenotype in FV Leiden mutation carriers

2005 ◽  
Vol 24 (2) ◽  
pp. 141-146
Author(s):  
Valentina Djordjevic ◽  
Ljiljana Rakicevic ◽  
Predrag Miljic ◽  
Danijela Mikovic ◽  
Mirjana Kovac ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Genetic Risk ◽  
Genetic Factors ◽  
Vein Thrombosis ◽  
Mutation Carriers ◽  
Fv Leiden ◽  
Deep Vein ◽  
The Impact ◽  
Limb Deep Vein Thrombosis

FV Leiden mutation is an important genetic risk factor for venous thromboembolsm (VTE). In this study we have analyzed clinical manifestation and the impact of other genetic and acquired risk factors in 100 patients (95 heterozygous and 5 homozygous) carriers of FV Leiden mutation. Among these patients, 91 experienced VTE, with down limb deep vein thrombosis as the most frequent manifestation. An acquired risk factor was present in 68.6% of women, whereas this was the case in 28.6% of men. FIIG20210A was present in 9.5%, MTHFR 677TT in 8.4% and both mutations in 2.1% of the heterozygous FV Leiden carriers. Our results suggest that knowledge of coexisting factors predisposing to VTE is very important for FV Leiden mutation carriers and may contribute to the prevention of VTE episodes.

scholarly journals A Virtual Cohort Study of Individuals at Genetic Risk for Parkinson’s Disease: Study Protocol and Design

2020 ◽  
pp. 1-13 ◽  
Author(s):  
Ruth B. Schneider ◽  
Taylor L. Myers ◽  
Helen M. Rowbotham ◽  
Marie K. Luff ◽  
Katherine Amodeo ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Cohort Study ◽  
Study Protocol ◽  
Genetic Risk ◽  
Disease Study

Parkinson disease penetrance in patients with Gaucher disease and in glucocerebrosidase mutation carriers

2014 ◽  
Vol 111 (2) ◽  
pp. S37-S38
Author(s):  
Tama Dinur ◽  
Timothy Quinn ◽  
Karina Sakanaka ◽  
Oren Levy ◽  
Karen S. Marder ◽  
...  
Keyword(s):  
Parkinson Disease ◽  
Gaucher Disease ◽  
Mutation Carriers ◽  
Disease Penetrance

A Mutation in Plasma Platelet-activating Factor Acetylhydrolase (Val279Phe) Is a Genetic Risk Factor for Cerebral Hemorrhage but not for Hypertension

1998 ◽  
Vol 80 (09) ◽  
pp. 372-375 ◽  
Author(s):  
Hidemi Yoshida ◽  
Tadaatsu Imaizumi ◽  
Koji Fujimoto ◽  
Hiroyuki Itaya ◽  
Makoto Hiramoto ◽  
...  
Keyword(s):  
Risk Factor ◽  
Genetic Risk ◽  
Platelet Activating Factor ◽  
Vascular Diseases ◽  
Genetic Risk Factor ◽  
Brain Hemorrhage ◽  
Platelet Activating Factor Acetylhydrolase ◽  
Paf Acetylhydrolase ◽  
Polymerase Chain ◽  
The Difference

SummaryPlatelet-activating factor (PAF) acetylhydrolase is an enzyme that inactivates PAF. Deficiency of this enzyme is caused by a missense mutation in the gene. We previously found a higher prevalence of this mutation in patients with ischemic stroke. This fact suggests that the mutation might enhance the risk for stroke through its association with hypertension. We have addressed this hypothesis by analyzing the prevalence of the mutation in hypertension. We studied 138 patients with essential hypertension, 99 patients with brain hemorrhage, and 270 healthy controls. Genomic DNA was analyzed for the mutant allele by the polymerase-chain reaction. The prevalence of the mutation was 29.3% (27.4% heterozygotes and 1.9% homozygotes) in controls and 36.2% in hypertensives and the difference was not significant. The prevalence in patients with brain hemorrhage was significantly higher than the control: 32.6% heterozygotes and 6.1% homozygotes (p <0.05). PAF acetylhydrolase deficiency may be a genetic risk factor for vascular diseases.

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